Results 251 to 260 of about 187,501 (315)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto +2 more
wiley +1 more source
The assessment of sleep stage utilizing body pressure fluctuation measured by water mat sensors
, 2009 Takaaki Noh +7 more
openalex +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source
Multichannel Analysis of EEG Signal Applied to Sleep Stage Classification
, 2009 Zhovna Inna, Shallom D.Il
openalex +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones +6 more
wiley +1 more source
Obstructive Sleep Apnea Alters Sleep Stage Transition Dynamics
, 2010 Matt T. Bianchi +4 more
openalex +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.Abstract This article discusses variations in the experiences of Dutch identity and belonging to a music‐making group in the Dutch migrant community in Melbourne, Australia. It answers the research question “Which variations of ‘Dutch identity’ are there for the participants and how does music‐making relate to this?”. Feelings of identity and belonging
Karien Dekker +2 more
wiley +1 more source